Product Details

SNP ID

rs13240993

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:144397318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTGATCCAGGGAAGCAGCTGGTGG[G/T]TCCTCTTTTGCCTTGCTGAGTAAGG

Phenotype

MIM: 610934

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

NOBOX PubMed Links

Gene Details

Gene

NOBOX

Gene Name

NOBOX oogenesis homeobox

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080413.3	2113	Missense Mutation	GAA,GAC	E666D	NP_001073882.3
XM_017011742.1	2113	Missense Mutation	GAA,GAC	E634D	XP_016867231.1

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